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Ever since Gregor Mendel’s mid-nineteenth-century* investigations into the inherited traits of pea plants were used to set the foundations for our understanding of genetics, we’ve been taught that who we are is a resolutely predictable matter of the genes we’ve inherited from previous generations. A little from Mom. A little from Dad. Whip it up, and there’s you. That calcified view of genetic inheritance is what students in middle school classrooms are still studying to this day when they map out pedigree charts in an effort to make sense of their fellow students’ eye color, curly hair, tongue rolling, or hairy fingers. And the lesson, delivered as though on stone tablets from Mendel himself, is that we don’t have much of a choice in the matter of what we get or what we give, because our genetic legacy was completely fixed when our parents conceived us. But that’s all wrong.
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War, peace, feast, famine, diaspora, disease—if our ancestors went through it and survived, we’ve inherited it. And once we’ve got it, we’re that much more likely to pass it on to the next generation in one way or another. That might mean cancer. It might mean Alzheimer’s disease. It might mean obesity. But it might also mean longevity. It might mean grace under fire. And it might just mean happiness itself.
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All of which prompts us to ask, why the difference in expression? Because our genes do not respond to our lives in a binary fashion. As we will come to learn, and contrary to Mendel’s findings, even if our inherited genes seem set in stone, the way they express themselves can be anything but. Whereas our inheritance may have been initially understood through a black-and-white Mendelian lens, today we’re starting to understand the power of seeing things in full and genetically expressive color.
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Doucleff (2012, Feb. 11). Anatomy of a tear-jerker: Why does Adele’s “Someone Like You” make everyone cry? Science has found the formula. The Wall Street Journal.
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But there is plenty of room for improvisation built into our lives. Timing. Timbre. Tone. Volume. Dynamics. Through tiny chemical processes, your body is using each gene you carry like a musician uses an instrument. It can be played loudly or softly. It can be played quickly or slowly. And it can even be played in different ways, as needed, in much the way that the incomparable Yo-Yo Ma can make his 1712 Stradivarius cello play everything from Brahms to bluegrass. That’s genetic expression.
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To understand ciliopathies, it’s important to understand cilia and the genetics that are behind them. And to do that, first you must know that cilia are everywhere—and I mean absolutely everywhere. While you might never have heard of them, they’ve been looking out for you and your well-being since before you were born. Like a modified form of touch, some of your cells even use cilia to physically sense their way around their microscopic world. However, there are other compelling examples of the importance of using touch to make sense of the world around us.
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A good way to visualize this is to picture a football stadium in which almost everyone is wearing a white shirt, save for every single person in every tenth row—those people are all wearing red. Look around the stadium. What do you see? A sea of red. Now imagine that everyone wearing a red shirt is also holding an envelope. And imagine that in every envelope there is a piece of paper with a sentence on it. And imagine that all of those sentences, put together, tell a story about everyone else in the stadium. That’s how genetic research into rare diseases works.